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SÁNCHEZ FERNÁNDEZ, Mayka

SÁNCHEZ FERNÁNDEZ, Mayka

Professor Agregat
Faculty of Medicine and Health Sciences
Department of Biomedical Sciences
researchgroups.uic.es/ironmetabolism/

Contact

Tel. +34 932 541 800
Ext. 5263
msanchezfe@uic.es
ORCID
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  • Academic training
  • Acknowledgements
  • Publications
    • Articles
    • Book chapters
  • Subjects taught
  • Doctora en Biologia- Genètica
  • Universitat de Barcelona
  • Licenciada en Bioquímica
  • Universitat de Barcelona
  • The European Iron Club (EIC) Annual Meeting. Frankfurt, Germany, 28th-29th March
    3rd Prize for the best Oral presentation. Oral presentation by M Sanchez: Ppp1r1b binds Iron Regulatory Proteins and modulates iron cellular content. Laura Calvo-López, Gonzalo Hernández, Ferran Celma Nos and Mayka Sánchez., 2023
  • Edition 2023. Oral Presentation by M Sanchez: SP-001-RACGAP1, EL NUEVO GEN EN ANEMIA DISERITROPOYÉTICA CONGÉNITA AUTOSÓMICA RECESIVA TIPO IIIB: PACIENTES, MUTACIONES, ESTUDIOS FUNCIONALES Y MODELO EN ZEBRAFISH. Hernández G, Romero-Cortadellas L, et al ....Sánchez M. Remarks: FINALIST: Nominated as Best oral presentation of the whole congress (6 oral presentations were nominated)
    National Congress Prize Finalist: LXV Congreso Nacional SEHH, Sevilla, 26-28 Octubre 2023. Oral Presentation by M Sanchez: SP-001-RACGAP1, EL NUEVO GEN EN ANEMIA DISERITROPOYÉTICA CONGÉNITA AUTOSÓMICA RECESIVA TIPO IIIB: PACIENTES, MUTACIONES, ESTUDIOS FUNCIONALES Y MODELO EN ZEBRAFISH. Hernández G 1, Romero-Cortadellas L2, Bañón A3, Ferrer-Cortès X1, Venturi V2, Dessy-Rodriguez M 4, Olivella M5, Husami A6, Pérez-De-Soto C 7, Morales-Camacho RM8, Villegas A9, González-Fernández FA 9, Morado M 10, Kalfa TA11, Quintana-Bustamante O4, Pérez-Montero S12, Tornador C12, Alsina B3, Segovia JC4, Sánchez M1. Remarks: FINALIST: Nominated as Best oral presentation of the whole congress (6 oral presentations were nominated). Publication congress communications: Journal: Sangre 2023; 42 (Supl 1) page 1., 2023
  • I3P Award (IEDI-2016-00747) for Excellent Scientific Career
    Spanish Ministry of Science and Innovation. Amount (EUR): 100.000 €. 08/11/2016. This prize is awarded to excellent researchers with a previous “Ramon y Cajal contract” after an external and strict evaluation. Final score: 95/10, 2016
  • Excellence certificate Programme I3
    This accreditation is given to few Ramon Y Cajal contracted researchers after external evaluation and only to those that demonstrate excellence in research., 2014
  • The European Iron Club (EIC) Annual Meeting. Barcelona, Spain, 28-29 September 2006.
    2nd Prize for the best Oral presentation. The European Iron Club (EIC) Annual Meeting. Barcelona, Spain, 28-29 September 2006. Oral presentation bY Mayka sanchez: Identification of an Iron-Responsive Element in the 3’ untranslated region of human CDC14A mRNA by a refined microarray-based screening strategy, 2006
  • Heidelberg University, Heidelberg, Germany (July 2005-June 2007). TV-L contract in the German salary system for research positions.
    Young Investigator Award der Medizinischen Fakultät Heidelberg. Heidelberg University, Heidelberg, Germany (July 2005-June 2007). TV-L contract in the German salary system for research positions., 2005
  • Edition 2005. Best thesis work that makes a significant contribution to the transfer of knowledge to society. For the work entitled “Screening of C282Y and H63D mutations of the hemochromatosis gene (HFE) in 5,370 blood donors from the Spanish population”.
    Best thesis : Antoni Caparrós Award by the Social Council of the University of Barcelona, 31 May 2005. Best thesis work that makes a significant contribution to the transfer of knowledge to society. For the work entitled “Screening of C282Y and H63D mutations of the hemochromatosis gene (HFE) in 5,370 blood donors from the Spanish population”., 2005
  • Journal of hepatology, Characterization of ferroportin disease and SLC40A1-related hemochromatosis – Results from the EASL non-HFE registry
    Name: Troppmair, Maria Rosina; Ricci, Andrea; Scarlini, Stefania; Pelucchi, Sara; Porto, Graça; Busti, Fabiana; Sanchez, Mayka; Weissensteiner, Hansi; Schönherr, Sebastian; Forer, Lukas; Kronenberg, Florian; Pammer, Lorenz Michael; Kremser, Christian; Henninger, Benjamin; Junior Lima Santos, Paulo Caleb; An, Peng; Wang, Fudi; De Gobbi, Marco; Unal, Sule; Noriyuki, Yamakawa; Ishikawa, Tetsuya; Drakesmith, Hal; Tilg, Herbert; Bardou-Jacquet, Edouard; Girelli, Domenico; Piperno, Alberto; Pietrangelo, Antonello; Corradini, Elena; Schaefer, Benedikt; Zoller, Heinz Role: Autor Publishing date: 2026
    Start page: 728 End page: 737 Vol.: 84 No.: 4
    DOI: 10.1016/j.jhep.2025.10.016 ISSN or title: 0168-8278
  • iScience, Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis
    Name: Pazos-Gil, Maria; Medina-Carbonero, Marta; Sanz-Alcázar, Arabela; Portillo-Carrasquer, Marta; Oliveira-Jorge, Luiza; Hernández, Gonzalo; Sánchez, Mayka; Delaspre, Fabien; Cabiscol, Elisa; Ros, Joaquim; Tamarit, Jordi Role: Autor Publishing date: 2026
    Vol.: 29 No.: 2
    DOI: 10.1016/j.isci.2025.114625
  • Nucleic acids research, SIREs 3.0, an improved RNA prediction tool for iron-responsive elements
    Name: Suárez-Quintana, Clara; Navarro-Padilla, Mar; Chorostecki, Uciel; Sanchez, Mayka Role: Autor Publishing date: 2025
    Start page: W520 End page: W527 Vol.: 53 No.: W1
    DOI: 10.1093/nar/gkaf390 ISSN or title: 0305-1048
  • Scientific Reports, The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia
    Name: Jové-Solavera, Daniel; Rámila, Marta; Ferrer-Cortés, Xènia; Olivella, Mireia; Venturi, Veronica; Morado, Marta; Hernández-Rodríguez, Ines; Khan, Aneal; Pérez-Montero, Santiago; Tornador, Cristian; Germing, Ulrich; Gattermann, Norbert; Sanchez, Mayka Role: Autor Publishing date: 2025
    Vol.: 15 No.: 1
    DOI: 10.1038/s41598-025-95590-x
  • Molecular Medicine, Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis
    Name: Giroud-Gerbetant, Judith; Sotillo, Fernando; Hernández, Gonzalo; Ruano, Irene; Sebastián, David; Fort, Joana; Sánchez, Mayka; Weiss, Günter; Prats, Neus; Zorzano, Antonio; Palacín, Manuel; Bodoy, Susanna Role: Autor Publishing date: 2025
    Vol.: 31 No.: 1
    DOI: 10.1186/s10020-025-01100-0 ISSN or title: 1076-1551
  • HemaSphere, Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
    Name: Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta; Sanchez, Mayka; Busti, Fabiana; Swinkels, Dorine; Aguilar Martinez, Patricia; Bou-Fakhredin, Rayan; Muckenthaler, Martina U.; Unal, Sule; Porto, Graça; Ganz, Tomas; Kattamis, Antonis; De Franceschi, Lucia; Cappellini, Maria Domenica; Munro, Malcolm G.; Taher, Ali Role: Autor Publishing date: 2024
    Vol.: 8 No.: 7
    DOI: 10.1002/hem3.108
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernández Viedma, Gonzalo; Leoz, P.; Ricard, M.; Morado, M.; Fernández, M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez-Valencia, A.; Pérez-Montero, S.; Tornador, C.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: 10.3390/ijms24129935 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Musri, Melina Mara; Venturi, Veronica; Ferrer-Cortès, Xènia; Romero-Cortadellas, Lídia; Hernández, Gonzalo; Leoz, Pilar; Ricard Andrés, María Pilar; Morado, Marta; Fernández Valle, María del Carmen; Beneitez Pastor, David; Ortuño Cabrero, Ana; Moreno Gamiz, Maite; Senent Peris, Leonor; Perez-Valencia, Amanda Isabel; Pérez-Montero, Santiago; Tornador, Cristian; Sánchez, Mayka Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: 10.3390/ijms24129935 ISSN or title: 1661-6596
  • Health Expectations, Haemochromatosis patients' research priorities
    Name: Romero-Cortadellas, Lídia; Venturi, Veronica; Martín-Sánchez, Juan Carlos; Toska, Ketil; Prince, Dianne; Butzeck, Barbara; Porto, Graça; Milman, Nils Thorm; Sánchez, Mayka; Sánchez, Mayka Role: Autor Publishing date: 2023
    Start page: 2293 End page: 2301 Vol.: 26 No.: 6
    DOI: 10.1111/hex.13830 ISSN or title: 1369-6513
  • Nature Metabolism, Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype
    Name: Maus, Mate; López-Polo, Vanessa; Mateo, Lidia; Lafarga, Miguel; Aguilera, Mònica; De Lama, Eugenia; Meyer, Kathleen; Sola, Anna; Lopez-Martinez, Cecilia; López-Alonso, Ines; Guasch-Piqueras, Marc; Hernandez-Gonzalez, Fernanda; Chaib, Selim; Rovira, Miguel; Sanchez, Mayka; Faner, Rosa; Agusti, Alvar; Diéguez-Hurtado, Rodrigo; Ortega, Sagrario; Manonelles, Anna; Engelhardt, Stefan; Monteiro, Freddy; Stephan-Otto Attolini, Camille; Prats, Neus; Albaiceta, Guillermo; Cruzado, Josep M.; Serrano, Manuel Role: Autor Publishing date: 2023
    Start page: 2111 End page: 2130 Vol.: 5 No.: 12
    DOI: 10.1038/s42255-023-00928-2
  • International Journal of Molecular Sciences, New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation
    Name: Romero-Cortadellas, Lídia; Hernández, Gonzalo; Ferrer-Cortès, Xènia; Zalba-Jadraque, Laura; Fuster, José Luis; Bermúdez-Cortés, Mar; Galera-Miñarro, Ana María; Pérez-Montero, Santiago; Tornador, Cristian; Sánchez, Mayka Role: Autor Publishing date: 2022
    Vol.: 23 No.: 8
    DOI: 10.3390/ijms23084406 ISSN or title: 1661-6596
  • HemaSphere, The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias
    Name: Roy, Noémi B.A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; Del Mar Mañú-Pereira, Maria; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez, Mayka; Van Wijk, Richard; Van Der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille Role: Autor Publishing date: 2022
    Vol.: 6 No.: 6
    DOI: 10.1097/HS9.0000000000000739
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive Congenital Dyserythropoietic Anemia type III.
    Name: Hernandez, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González, F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2022
    ISSN or title: 0390-6078
  • British journal of haematology, The use of next-generation sequencing in the diagnosis of rare inherited anaemias
    Name: Roy, Noémi B.A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; Mañú-Pereira, Maria del Mar; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez, Mayka; van Wijk, Richard; van der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille Role: Autor Publishing date: 2022
    Start page: 459 End page: 477 Vol.: 198 No.: 3
    DOI: 10.1111/bjh.18191 ISSN or title: 0007-1048
  • Blood, Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payan, S.; Tornador, C.; Hernández, G.; Bianchi, P.; Sánchez Fernández, Mayka; Ramirez, J.C.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2021
    Vol.: 138 No.: 1
    DOI: 10.1182/blood-2021-152332 ISSN or title: 0006-4971
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernandez, G.; Ferrer, X.; Venturi, V.; Musri, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: 10.3390/genes12121980 ISSN or title: 2073-4425
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica; Musri, Melina; Pilquil, Martin Floor; Torres, Pau Marc Muñoz; Rodríguez, Ines Hernandez; Mínguez, Maria Àngels Ruiz; Kelleher, Nicholas J.; Pelucchi, Sara; Piperno, Alberto; Alberca, Esther Plensa; Ricós, Georgina Gener; Giró, Eloi Cañamero; Pérez-Montero, Santiago; Tornador, Cristian; Villà-Freixa, Jordi; Sánchez, Mayka Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: 10.3390/genes12121980
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernández Viedma, Gonzalo; Ferrer, X.; Hernández-Rodriguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez-Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: 10.3390/ijms22115451 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome
    Name: Nos, Ferran Celma; Hernández, Gonzalo; Ferrer‐cortès, Xènia; Hernandez‐rodriguez, Ines; Navarro‐almenzar, Begoña; Fuster, José Luis; Cortés, Mar Bermúdez; Pérez‐montero, Santiago; Tornador, Cristian; Sanchez, Mayka Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: 10.3390/ijms22115451 ISSN or title: 1661-6596
  • Blood, Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payán, S.; Tornador, C.; Hernandez, G.; Sánchez Fernández, Mayka; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2020
    Vol.: 136 No.: 1
    DOI: 10.1182/blood-2020-139207 ISSN or title: 0006-4971
  • International Journal of Molecular Sciences, Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis
    Name: Cuenca, Marc Vila; Marchi, Giacomo; Barqué, Anna; Esteban-Jurado, Clara; Marchetto, Alessandro; Giorgetti, Alejandro; Chelban, Viorica; Houlden, Henry; Wood, Nicholas W.; Piubelli, Chiara; Borges, Marina Dorigatti; de Albuquerque, Dulcinéia Martins; Fertrin, Kleber Yotsumoto; Jové-Buxeda, Ester; Sanchez-Delgado, Jordi; Baena-Díez, Neus; Burnyte, Birute; Utkus, Algirdas; Busti, Fabiana; Kaubrys, Gintaras; Suku, Eda; Kowalczyk, Kamil; Karaszewski, Bartosz; Porter, John B.; Pollard, Sally; Eleftheriou, Perla; Bignell, Patricia; Girelli, Domenico; Sanchez, Mayka Role: Autor Publishing date: 2020
    Vol.: 21 No.: 7
    DOI: 10.3390/ijms21072374 ISSN or title: 1661-6596
  • Frontiers in Physiology, CoDysAn
    Name: Tornador, Cristian; Sánchez-Prados, Edgar; Cadenas, Beatriz; Russo, Roberta; Venturi, Veronica; Andolfo, Immacolata; Hernández-Rodriguez, Ines; Iolascon, Achille; Sánchez, Mayka Role: Autor Publishing date: 2019
    Vol.: 10
    DOI: 10.3389/fphys.2019.01063
  • Pharmaceuticals, L-ferritin
    Name: Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar; Hernandez-Rodriguez, Inés; Fuster, José Luis; Llinares, María Esther; Galera, Ana María; Romero, Julia Lee; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez, Mayka Role: Autor Publishing date: 2019
    Vol.: 12 No.: 1
    DOI: 10.3390/ph12010017
  • Haematologica-the Hematology journal, The phenotypic spectrum of germline YARS2 variants
    Name: Riley, Lisa G.; Heeney, Matthew M.; Rudinger-Thirion, Joëlle; Frugier, Magali; Campagna, Dean R.; Zhou, Ronghao; Hale, Gregory A.; Hilliard, Lee M.; Kaplan, Joel A.; Kwiatkowski, Janet L.; Sieff, Colin A.; Steensma, David P.; Rennings, Alexander J.; Simons, Annet; Schaap, Nicolaas; Roodenburg, Richard J.; Kleefstra, Tjitske; Arenillas, Leonor; Fita-Torró, Josep; Ahmed, Rasha; Abboud, Miguel; Bechara, Elie; Farah, Roula; Tamminga, Rienk Y.J.; Bottomley, Sylvia S.; Sanchez, Mayka; Huls, Gerwin; Swinkels, Dorine W.; Christodoulou, John; Fleming, Mark D. Role: Autor Publishing date: 2018
    Start page: 2008 End page: 2015 Vol.: 103 No.: 12
    DOI: 10.3324/haematol.2017.182659 ISSN or title: 0390-6078
  • Genética Médica y Genómica, Cuando el hierro es tóxico
    Name: Barqué, A.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2017
    Start page: 49 End page: 60 Vol.: 1 No.: 1
    ISSN or title: 2605-0463
  • Scientific Reports, Functional characterization of a novel non-coding mutation "ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
    Name: Van De Sompele, Stijn; Pécheux, Lucie; Couso, Jorge; Meunier, Audrey; Sanchez, Mayka; De Baere, Elfride Role: Autor Publishing date: 2017
    Vol.: 7 No.: 1
    DOI: 10.1038/s41598-017-18326-6
  • Blood, The actin-binding protein profilin 2 is a novel regulator of iron homeostasis
    Name: Luscieti, Sara; Galy, Bruno; Gutierrez, Lucia; Reinke, Michael; Couso, Jorge; Shvartsman, Maya; Di Pascale, Antonio; Witke, Walter; Hentze, Matthias W.; Pilo Boyl, Pietro; Sanchez, Mayka Role: Autor Publishing date: 2017
    Start page: 1934 End page: 1945 Vol.: 130 No.: 17
    DOI: 10.1182/blood-2016-11-754382 ISSN or title: 0006-4971
  • Haematologica-the Hematology journal, The european hematology association roadmap for european hematology research
    Name: Engert, Andreas; Balduini, Carlo; Brand, Anneke; Coiffier, Bertrand; Cordonnier, Catherine; Döhner, Hartmut; De Wit, Thom Duyvené; Eichinger, Sabine; Fibbe, Willem; Green, Tony; De Haas, Fleur; Iolascon, Achille; Jaffredo, Thierry; Rodeghiero, Francesco; Sall Es, Gilles; Schuringa, Jan Jacob; André, Marc; Andre-Schmutz, Isabelle; Bacigalupo, Andrea; Bochud, Pierre Yves; Den Boer, Monique; Bonini, Chiara; Camaschella, Clara; Cant, Andrew; Cappellini, Maria Domenica; Cazzola, Mario; Celso, Cristina Lo; Dimopoulos, Meletios; Douay, Luc; Dzierzak, Elaine; Einsele, Hermann; Ferreri, Andrés; De Franceschi, Lucia; Gaulard, Philippe; Gottgens, Berthold; Greinacher, Andreas; Gresele, Paolo; Gribben, John; De Haan, Gerald; Hansen, John Bjarne; Hochhaus, Andreas; Kadir, Rezan; Kaveri, Srini; Kouskoff, Valerie; Kühne, Thomas; Kyrle, Paul; Ljungman, Per; Maschmeyer, Georg; Méndez-Ferrer, Simón; Sanchez, Mayka Role: Autor Publishing date: 2016
    Start page: 115 End page: 208 Vol.: 101 No.: 2
    DOI: 10.3324/haematol.2015.136739 ISSN or title: 0390-6078
  • PLoS ONE, Molecular evolution of multiple-level control of heme biosynthesis pathway in animal Kingdom
    Name: Tzou, Wen Shyong; Chu, Ying; Lin, Tzung Yi; Hu, Chin Hwa; Pai, Tun Wen; Liu, Hsin Fu; Lin, Han Jia; Cases, Ildeofonso; Rojas, Ana; Sanchez, Mayka; You, Zong Ye; Hsu, Ming Wei Role: Autor Publishing date: 2014
    Vol.: 9 No.: 1
    DOI: 10.1371/journal.pone.0086718
  • Medicina clínica, Systematic approach to the diagnosis of hyperferritinemia
    Name: Altés, A.; Pérez-Lucena, M.J.; Bruguera, M.; Sánchez Fernández, Mayka; Iberico Ferropatologia, Grp Role: Autor Publishing date: 2014
    Start page: 412 End page: 417 Vol.: 142 No.: 9
    DOI: 10.1016/j.medcli.2013.06.010 ISSN or title: 0025-7753
  • Patient education and counseling, The importance of the general practitioner as an information source for patients with hereditary haemochromatosis
    Name: Teixeira, Emerência; Borlido-Santos, Júlio; Brissot, Pierre; Butzeck, Barbara; Courtois, Françoise; Evans, Robert W.; Fernau, Janet; Nunes, João Arriscado; Mullett, Margaret; Paneque, Milena; Pineau, Brigitte; Porto, Graça; Sorrill, Robert; Sanchez, Mayka; Swinkels, Dorine W.; Toska, Ketil; Varkonyi, Judit Role: Autor Publishing date: 2014
    Start page: 86 End page: 92 Vol.: 96 No.: 1
    DOI: 10.1016/j.pec.2014.04.017 ISSN or title: 0738-3991
  • Human mutation, Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency Anemia patients and genotype-phenotype studies
    Name: de Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon-Rodriguez, Maria; Yilmaz-Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Grandchamp, Bernard; Sanchez, Mayka Role: Autor Publishing date: 2014
    Start page: 1321 End page: 1329 Vol.: 35 No.: 11
    DOI: 10.1002/humu.22632 ISSN or title: 1059-7794
  • Orphanet Journal of Rare Diseases, Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
    Name: Luscieti, Sara; Tolle, Gabriele; Aranda, Jessica; Campos, Carmen Benet; Risse, Frank; Morán, Érica; Muckenthaler, Martina U.; Sánchez, Mayka Role: Autor Publishing date: 2013
    Vol.: 8 No.: 1
    DOI: 10.1186/1750-1172-8-30
  • Journal of molecular medicine (JMM), Siderophore-mediated iron trafficking in humans is regulated by iron
    Name: Liu, Zhuoming; Lanford, Robert; Mueller, Sebastian; Gerhard, Glenn S.; Luscieti, Sara; Sanchez, Mayka; Devireddy, L. Role: Autor Publishing date: 2012
    Start page: 1209 End page: 1221 Vol.: 90 No.: 10
    DOI: 10.1007/s00109-012-0899-7 ISSN or title: 0946-2716
  • Blood, Iron regulatory protein-1 and -2
    Name: Sanchez, Mayka; Schwanhaeusser, Bjoern; Blake, Jonathon; Bähr-Ivacevic, Tomi; Benes, Vladimir; Selbach, Matthias; Muckenthaler, Martina U.; Hentze, Matthias W. Role: Autor Publishing date: 2011
    Start page: e168 End page: e179 Vol.: 118 No.: 22
    DOI: 10.1182/blood-2011-04-343541 ISSN or title: 0006-4971
  • Immunobiology, Mycobacteria-induced anaemia revisited
    Name: Rodrigues, Pedro N.; Gomes, Sandro S.; Neves, João V.; Gomes-Pereira, Sandra; Correia-Neves, Margarida; Nunes-Alves, Cláudio; Stolte, Jens; Sanchez, Mayka; Appelberg, Rui; Muckenthaler, Martina U.; Gomes, M. Salomé Role: Autor Publishing date: 2011
    Start page: 1127 End page: 1134 Vol.: 216 No.: 10
    DOI: 10.1016/j.imbio.2011.04.004 ISSN or title: 0171-2985
  • Haematologica-the Hematology journal, Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
    Name: Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; Kerr, Briedgeen; Moran, Erica; Soler, Jose L.Fuster; Maloum, Karim; Matthes, Thomas; Oudot, Caroline; Lascaux, Axelle; Pondarré, Corinne; Navarro, Julian Sevilla; Vidyatilake, Sudharma; Beaumont, Carole; Grandchamp, Bernard; May, Alison Role: Autor Publishing date: 2011
    Start page: 808 End page: 813 Vol.: 96 No.: 6
    DOI: 10.3324/haematol.2010.039164 ISSN or title: 0390-6078
  • Nucleic acids research, SIREs
    Name: Campillos, Monica; Cases, Ildefonso; Hentze, Matthias W.; Sanchez, Mayka Role: Autor Publishing date: 2010
    Start page: W360 End page: W367 Vol.: 38 No.: SUPPL. 2
    DOI: 10.1093/nar/gkq371 ISSN or title: 0305-1048
  • BMC Bioinformatics, The IronChip evaluation package
    Name: Vainshtein, Yevhen; Sanchez, Mayka; Brazma, Alvis; Hentze, Matthias W.; Dandekar, Thomas; Muckenthaler, Martina U. Role: Autor Publishing date: 2010
    Vol.: 11
    DOI: 10.1186/1471-2105-11-112
  • Human molecular genetics, Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
    Name: Ramsay, Andrew J.; Quesada, Victor; Sanchez, Mayka; Garabaya, Cecilia; Sardá, María P.; Baiget, Montserrat; Remacha, Angel; Velasco, Gloria; López-Otín, Carlos Role: Autor Publishing date: 2009
    Start page: 3673 End page: 3683 Vol.: 18 No.: 19
    DOI: 10.1093/hmg/ddp315 ISSN or title: 0964-6906
  • Nature protocols (Print), Identification of target mRNAs of regulatory RNA-binding proteins using mRNP immunopurification and microarrays
    Name: Sanchez, Mayka; Galy, Bruno; Hentze, Matthias W.; Muckenthaler, Martina U. Role: Autor Publishing date: 2007
    Start page: 2033 End page: 2042 Vol.: 2 No.: 8
    DOI: 10.1038/nprot.2007.293 ISSN or title: 1754-2189
  • Nature structural and molecular biology, Iron-regulatory proteins limit hypoxia-inducible factor-2α expression in iron deficiency
    Name: Sanchez, Mayka; Galy, Bruno; Muckenthaler, Martina U.; Hentze, Matthias W. Role: Autor Publishing date: 2007
    Start page: 420 End page: 426 Vol.: 14 No.: 5
    DOI: 10.1038/nsmb1222 ISSN or title: 1545-9993
  • Journal of biological chemistry, Iron regulation and the cell cycle
    Name: Sanchez, Mayka; Galy, Bruno; Dandekar, Thomas; Bengert, Peter; Vainshtein, Yevhen; Stolte, Jens; Muckenthaler, Martina U.; Hentze, Matthias W. Role: Autor Publishing date: 2006
    Start page: 22865 End page: 22874 Vol.: 281 No.: 32
    DOI: 10.1074/jbc.M603876200 ISSN or title: 0021-9258
  • Endocrine, The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Name: Oliva, Rafael; Novials, Anna; Sánchez, Mayka; Villa, Marga; Ingelmo, Mercedes; Recasens, Mónica; Ascaso, Carlos; Bruguera, Miquel; Gomis, Ramón Role: Autor Publishing date: 2004
    Start page: 111 End page: 114 Vol.: 24 No.: 2
    DOI: 10.1385/ENDO:24:2:111 ISSN or title: 1355-008X
  • Nature genetics, An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
    Name: Roy, Cindy N.; Custodio, Ángel O.; De Graaf, Jos; Schneider, Susanne; Akpan, Imo; Montross, Lynne K.; Sanchez, Mayka; Gaudino, Alessandro; Hentze, Matthias W.; Andrews, Nancy C.; Muckenthaler, Martina U. Role: Autor Publishing date: 2004
    Start page: 481 End page: 485 Vol.: 36 No.: 5
    DOI: 10.1038/ng1350 ISSN or title: 1061-4036
  • Journal of hepatology, Population screening for hemochromatosis
    Name: Sánchez, Mayka; Villa, Margarita; Ingelmo, Mercedes; Sanz, Cristina; Bruguera, Miquel; Ascaso, Carlos; Oliva, Rafael Role: Autor Publishing date: 2003
    Start page: 745 End page: 750 Vol.: 38 No.: 6
    DOI: 10.1016/S0168-8278(03)00123-5 ISSN or title: 0168-8278
  • Blood cells molecules and diseases, Complete characterization of the 3′ region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    Name: Sánchez, Mayka; Bruguera, Miquel; Rodés, Joan; Oliva, Rafael Role: Autor Publishing date: 2001
    Start page: 35 End page: 43 Vol.: 27 No.: 1
    DOI: 10.1006/bcmd.2000.0346 ISSN or title: 1079-9796
  • Genetic testing, Hereditary hemochromatosis in Spain
    Name: Sanchez, M.; Bruguera, M.; Quintero, E.; Barrio, Y.; Mazzara, R.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2000
    Start page: 171 End page: 176 Vol.: 4 No.: 2
    DOI: 10.1089/10906570050114885 ISSN or title: 1090-6576
  • European Journal of Gastroenterology and Hepatology, Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez, Mayka; Bruguera, Miquel; Bosch, Jaume; Rodés, Joan; Ballesta, Francisea; Oliva, Rafael Role: Autor Publishing date: 1999
    Vol.: 11 No.: 1
    DOI: 10.1097/00042737-199901000-00013 ISSN or title: 0954-691X
  • Journal of hepatology, revalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez Fernández, Mayka; Bruguera, M.; Bosch, J.; Rodes, J.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 725 End page: 728 Vol.: 29 No.: 5
    ISSN or title: 0168-8278
  • Biochemical and Biophysical Research Communications, Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals
    Name: Margarit, Ester; Guillén, Alicia; Rebordosa, Cristina; Vidal-Taboada, José; Sánchez, Mayka; Ballesta, Francisca; Oliva, Rafael Role: Autor Publishing date: 1998
    Start page: 370 End page: 377 Vol.: 245 No.: 2
    DOI: 10.1006/bbrc.1998.8441 ISSN or title: 0006-291X
  • Biochemical and biophysical research communications, High resolution mapping and identification of transcribed sequences in the Down Syndrome region-2
    Name: Vidal-Taboada, J.; Bergoñon, S.; Sánchez Fernández, Mayka; López-Acedo, C.; Groet, J.; Nižetić, D.; Egeo, A.; Scartezzini, P.; Katsanis, N.; Fisher, E.; Delabar, J.M.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 572 End page: 578 Vol.: 243 No.: 2
    DOI: 10.1006/bbrc.1998.8141
  • Gene, Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter
    Name: Sánchez, Mayka; Queralt, Rosa; Bruguera, Miquel; Rodés, Joan; Oliva, Rafael Role: Autor Publishing date: 1998
    Start page: 77 End page: 87 Vol.: 225 No.: 1-2
    DOI: 10.1016/S0378-1119(98)00519-8 ISSN or title: 0378-1119
  • Journal of hepatology, Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez, Mayka; Bruguera, Miquel; Bosch, Jaume; Rodés, Joan; Ballesta, Francisca; Oliva, Rafael Role: Autor Publishing date: 1998
    Start page: 725 End page: 728 Vol.: 29 No.: 5
    DOI: 10.1016/S0168-8278(98)80252-3 ISSN or title: 0168-8278
  • Capítulo 19 Hemocromatosis. Eritropatología. 2nd Edition.
    Name: Sánchez Fernández, Mayka Role: Autor Publishing date: 2024
    Start page: 501 End page: 516
    ISBN: 978-84-125780-7-2
  • Capítulo Anemias Sideroblásticas Congénitas.. Guía de Recomendaciones para el Diagnóstico Genético y Seguimiento de Neoplasias Hematológicas
    Name: Anguita, E.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2017
  • Capítulo Hemocromatosis. Guía de recomendaciones para el diagnóstico genético y seguimiento de neoplasias
    Name: Sánchez Fernández, Mayka; Blas-López, C. Role: Autor Publishing date: 2017
  • Capítulo 30 Hemocromatosis Hereditaria. Eritropatología
    Name: Sánchez Fernández, Mayka; Altés, A. Role: Autor Publishing date: 2017
    Start page: 569 End page: 582
    ISBN: 978-84-945945-4-0
  • Capítulo 8 Anemias sideroblásticas congénitas.. Eritropatología
    Name: Sánchez Fernández, Mayka Role: Autor Publishing date: 2017
    ISBN: 978-84-945945-4-0
  • Capítulo 33. Anemias sideroblásticas congénitas. Manual Práctico de Genética Hematológica
    Name: Anguita, E.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2016
    ISBN: 9788460857570
  • Capítulo 36. Hemocromatosis. Manual Práctico de Genética Hematológica
    Name: Sánchez Fernández, Mayka; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C. Role: Autor Publishing date: 2016
    ISBN: 9788460857570
  • Tema 3. Trastornos del hierro en el organismo y métodos de estudio. Dentro del Módulo 4. Anemia y Poliglobulia.. Experto en bases del diagnóstico en Hematología
    Name: Sánchez Fernández, Mayka Role: Autor Publishing date: 2016
    ISBN: 9788491100317
  • Capítulo 15: Métodos para el diagnóstico de la ferropenia y el exceso de hierro. Manual de técnicas de laboratorio en hematología
    Name: Sánchez Fernández, Mayka; Vives-Corrons, J.L. Role: Autor Publishing date: 2014
    Start page: 390 End page: 433
    ISBN: 987-84-458-2147-3
  • Hereditary non-sideroblastic Anemia and Inherited Iron disorders. ENERCA reccommendations for Centres of Expertise in rare anaemias: A White Book
    Name: Sánchez Fernández, Mayka Role: Autor Publishing date: 2014
    ISBN: 978-84-939018-8-1
  • Capitulo 31. Práctica 6: bases de dades i d'anàlisi de seqüències a internet. Genética Médica
    Name: Oliva, R.; Vidal-Taboada, J.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2013
    ISBN: 978-84-475-3688-7
  • Cellular Iron Metabolism- the IRP/IRE regulatory network. Iron Metabolism
    Name: Joshi, R.; Morán, E.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2012
    Start page: 25 End page: 58
    ISBN: 978-953-51-0650-0
  • Capitol 29: Base de dades i d'anàlisis de seqüències a internet. Genètica Mèdica
    Name: Vidal-Taboada, J.; Sánchez Fernández, Mayka; Oliva, R. Role: Autor Publishing date: 2004
    ISBN: 84-475-2809-X
Course 2025-2026 - Period: 01/09/2025 - 31/08/2026
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Final Degree Project
    • - Clinical Genetics
    • - Genetics
    • - External Laboratory Practices
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Practicum I
    • - Final Master's Degree Project
    • - Practicum II
    • - Research On Rare Diseases
Course 2024-2025 - Period: 01/09/2024 - 31/08/2025
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Clinical Genetics
    • - Genetics
    • - Final Degree Project
    • - Work Placement
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2023-2024 - Period: 01/09/2023 - 31/08/2024
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2022-2023 - Period: 01/09/2022 - 31/08/2023
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2021-2022 - Period: 01/09/2021 - 31/08/2022
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2020-2021 - Period: 01/09/2020 - 31/08/2021
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2019-2020 - Period: 01/09/2019 - 31/08/2020
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
Course 2018-2019 - Period: 01/09/2018 - 31/08/2019
  • Bachelor's Degree
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Others
    UIC - Specific Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Integrated Biomedicine I

Academic training

  • Doctora en Biologia- Genètica
  • Universitat de Barcelona
  • Licenciada en Bioquímica
  • Universitat de Barcelona

Acknowledgements

  • The European Iron Club (EIC) Annual Meeting. Frankfurt, Germany, 28th-29th March
    3rd Prize for the best Oral presentation. Oral presentation by M Sanchez: Ppp1r1b binds Iron Regulatory Proteins and modulates iron cellular content. Laura Calvo-López, Gonzalo Hernández, Ferran Celma Nos and Mayka Sánchez., 2023
  • Edition 2023. Oral Presentation by M Sanchez: SP-001-RACGAP1, EL NUEVO GEN EN ANEMIA DISERITROPOYÉTICA CONGÉNITA AUTOSÓMICA RECESIVA TIPO IIIB: PACIENTES, MUTACIONES, ESTUDIOS FUNCIONALES Y MODELO EN ZEBRAFISH. Hernández G, Romero-Cortadellas L, et al ....Sánchez M. Remarks: FINALIST: Nominated as Best oral presentation of the whole congress (6 oral presentations were nominated)
    National Congress Prize Finalist: LXV Congreso Nacional SEHH, Sevilla, 26-28 Octubre 2023. Oral Presentation by M Sanchez: SP-001-RACGAP1, EL NUEVO GEN EN ANEMIA DISERITROPOYÉTICA CONGÉNITA AUTOSÓMICA RECESIVA TIPO IIIB: PACIENTES, MUTACIONES, ESTUDIOS FUNCIONALES Y MODELO EN ZEBRAFISH. Hernández G 1, Romero-Cortadellas L2, Bañón A3, Ferrer-Cortès X1, Venturi V2, Dessy-Rodriguez M 4, Olivella M5, Husami A6, Pérez-De-Soto C 7, Morales-Camacho RM8, Villegas A9, González-Fernández FA 9, Morado M 10, Kalfa TA11, Quintana-Bustamante O4, Pérez-Montero S12, Tornador C12, Alsina B3, Segovia JC4, Sánchez M1. Remarks: FINALIST: Nominated as Best oral presentation of the whole congress (6 oral presentations were nominated). Publication congress communications: Journal: Sangre 2023; 42 (Supl 1) page 1., 2023
  • I3P Award (IEDI-2016-00747) for Excellent Scientific Career
    Spanish Ministry of Science and Innovation. Amount (EUR): 100.000 €. 08/11/2016. This prize is awarded to excellent researchers with a previous “Ramon y Cajal contract” after an external and strict evaluation. Final score: 95/10, 2016
  • Excellence certificate Programme I3
    This accreditation is given to few Ramon Y Cajal contracted researchers after external evaluation and only to those that demonstrate excellence in research., 2014
  • The European Iron Club (EIC) Annual Meeting. Barcelona, Spain, 28-29 September 2006.
    2nd Prize for the best Oral presentation. The European Iron Club (EIC) Annual Meeting. Barcelona, Spain, 28-29 September 2006. Oral presentation bY Mayka sanchez: Identification of an Iron-Responsive Element in the 3’ untranslated region of human CDC14A mRNA by a refined microarray-based screening strategy, 2006
  • Heidelberg University, Heidelberg, Germany (July 2005-June 2007). TV-L contract in the German salary system for research positions.
    Young Investigator Award der Medizinischen Fakultät Heidelberg. Heidelberg University, Heidelberg, Germany (July 2005-June 2007). TV-L contract in the German salary system for research positions., 2005
  • Edition 2005. Best thesis work that makes a significant contribution to the transfer of knowledge to society. For the work entitled “Screening of C282Y and H63D mutations of the hemochromatosis gene (HFE) in 5,370 blood donors from the Spanish population”.
    Best thesis : Antoni Caparrós Award by the Social Council of the University of Barcelona, 31 May 2005. Best thesis work that makes a significant contribution to the transfer of knowledge to society. For the work entitled “Screening of C282Y and H63D mutations of the hemochromatosis gene (HFE) in 5,370 blood donors from the Spanish population”., 2005

Publications

Articles

Book chapters

  • Journal of hepatology, Characterization of ferroportin disease and SLC40A1-related hemochromatosis – Results from the EASL non-HFE registry
    Name: Troppmair, Maria Rosina; Ricci, Andrea; Scarlini, Stefania; Pelucchi, Sara; Porto, Graça; Busti, Fabiana; Sanchez, Mayka; Weissensteiner, Hansi; Schönherr, Sebastian; Forer, Lukas; Kronenberg, Florian; Pammer, Lorenz Michael; Kremser, Christian; Henninger, Benjamin; Junior Lima Santos, Paulo Caleb; An, Peng; Wang, Fudi; De Gobbi, Marco; Unal, Sule; Noriyuki, Yamakawa; Ishikawa, Tetsuya; Drakesmith, Hal; Tilg, Herbert; Bardou-Jacquet, Edouard; Girelli, Domenico; Piperno, Alberto; Pietrangelo, Antonello; Corradini, Elena; Schaefer, Benedikt; Zoller, Heinz Role: Autor Publishing date: 2026
    Start page: 728 End page: 737 Vol.: 84 No.: 4
    DOI: 10.1016/j.jhep.2025.10.016 ISSN or title: 0168-8278
  • iScience, Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis
    Name: Pazos-Gil, Maria; Medina-Carbonero, Marta; Sanz-Alcázar, Arabela; Portillo-Carrasquer, Marta; Oliveira-Jorge, Luiza; Hernández, Gonzalo; Sánchez, Mayka; Delaspre, Fabien; Cabiscol, Elisa; Ros, Joaquim; Tamarit, Jordi Role: Autor Publishing date: 2026
    Vol.: 29 No.: 2
    DOI: 10.1016/j.isci.2025.114625
  • Nucleic acids research, SIREs 3.0, an improved RNA prediction tool for iron-responsive elements
    Name: Suárez-Quintana, Clara; Navarro-Padilla, Mar; Chorostecki, Uciel; Sanchez, Mayka Role: Autor Publishing date: 2025
    Start page: W520 End page: W527 Vol.: 53 No.: W1
    DOI: 10.1093/nar/gkaf390 ISSN or title: 0305-1048
  • Scientific Reports, The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia
    Name: Jové-Solavera, Daniel; Rámila, Marta; Ferrer-Cortés, Xènia; Olivella, Mireia; Venturi, Veronica; Morado, Marta; Hernández-Rodríguez, Ines; Khan, Aneal; Pérez-Montero, Santiago; Tornador, Cristian; Germing, Ulrich; Gattermann, Norbert; Sanchez, Mayka Role: Autor Publishing date: 2025
    Vol.: 15 No.: 1
    DOI: 10.1038/s41598-025-95590-x
  • Molecular Medicine, Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis
    Name: Giroud-Gerbetant, Judith; Sotillo, Fernando; Hernández, Gonzalo; Ruano, Irene; Sebastián, David; Fort, Joana; Sánchez, Mayka; Weiss, Günter; Prats, Neus; Zorzano, Antonio; Palacín, Manuel; Bodoy, Susanna Role: Autor Publishing date: 2025
    Vol.: 31 No.: 1
    DOI: 10.1186/s10020-025-01100-0 ISSN or title: 1076-1551
  • HemaSphere, Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
    Name: Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta; Sanchez, Mayka; Busti, Fabiana; Swinkels, Dorine; Aguilar Martinez, Patricia; Bou-Fakhredin, Rayan; Muckenthaler, Martina U.; Unal, Sule; Porto, Graça; Ganz, Tomas; Kattamis, Antonis; De Franceschi, Lucia; Cappellini, Maria Domenica; Munro, Malcolm G.; Taher, Ali Role: Autor Publishing date: 2024
    Vol.: 8 No.: 7
    DOI: 10.1002/hem3.108
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernández Viedma, Gonzalo; Leoz, P.; Ricard, M.; Morado, M.; Fernández, M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez-Valencia, A.; Pérez-Montero, S.; Tornador, C.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: 10.3390/ijms24129935 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Musri, Melina Mara; Venturi, Veronica; Ferrer-Cortès, Xènia; Romero-Cortadellas, Lídia; Hernández, Gonzalo; Leoz, Pilar; Ricard Andrés, María Pilar; Morado, Marta; Fernández Valle, María del Carmen; Beneitez Pastor, David; Ortuño Cabrero, Ana; Moreno Gamiz, Maite; Senent Peris, Leonor; Perez-Valencia, Amanda Isabel; Pérez-Montero, Santiago; Tornador, Cristian; Sánchez, Mayka Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: 10.3390/ijms24129935 ISSN or title: 1661-6596
  • Health Expectations, Haemochromatosis patients' research priorities
    Name: Romero-Cortadellas, Lídia; Venturi, Veronica; Martín-Sánchez, Juan Carlos; Toska, Ketil; Prince, Dianne; Butzeck, Barbara; Porto, Graça; Milman, Nils Thorm; Sánchez, Mayka; Sánchez, Mayka Role: Autor Publishing date: 2023
    Start page: 2293 End page: 2301 Vol.: 26 No.: 6
    DOI: 10.1111/hex.13830 ISSN or title: 1369-6513
  • Nature Metabolism, Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype
    Name: Maus, Mate; López-Polo, Vanessa; Mateo, Lidia; Lafarga, Miguel; Aguilera, Mònica; De Lama, Eugenia; Meyer, Kathleen; Sola, Anna; Lopez-Martinez, Cecilia; López-Alonso, Ines; Guasch-Piqueras, Marc; Hernandez-Gonzalez, Fernanda; Chaib, Selim; Rovira, Miguel; Sanchez, Mayka; Faner, Rosa; Agusti, Alvar; Diéguez-Hurtado, Rodrigo; Ortega, Sagrario; Manonelles, Anna; Engelhardt, Stefan; Monteiro, Freddy; Stephan-Otto Attolini, Camille; Prats, Neus; Albaiceta, Guillermo; Cruzado, Josep M.; Serrano, Manuel Role: Autor Publishing date: 2023
    Start page: 2111 End page: 2130 Vol.: 5 No.: 12
    DOI: 10.1038/s42255-023-00928-2
  • International Journal of Molecular Sciences, New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation
    Name: Romero-Cortadellas, Lídia; Hernández, Gonzalo; Ferrer-Cortès, Xènia; Zalba-Jadraque, Laura; Fuster, José Luis; Bermúdez-Cortés, Mar; Galera-Miñarro, Ana María; Pérez-Montero, Santiago; Tornador, Cristian; Sánchez, Mayka Role: Autor Publishing date: 2022
    Vol.: 23 No.: 8
    DOI: 10.3390/ijms23084406 ISSN or title: 1661-6596
  • HemaSphere, The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias
    Name: Roy, Noémi B.A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; Del Mar Mañú-Pereira, Maria; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez, Mayka; Van Wijk, Richard; Van Der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille Role: Autor Publishing date: 2022
    Vol.: 6 No.: 6
    DOI: 10.1097/HS9.0000000000000739
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive Congenital Dyserythropoietic Anemia type III.
    Name: Hernandez, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González, F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2022
    ISSN or title: 0390-6078
  • British journal of haematology, The use of next-generation sequencing in the diagnosis of rare inherited anaemias
    Name: Roy, Noémi B.A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; Mañú-Pereira, Maria del Mar; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez, Mayka; van Wijk, Richard; van der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille Role: Autor Publishing date: 2022
    Start page: 459 End page: 477 Vol.: 198 No.: 3
    DOI: 10.1111/bjh.18191 ISSN or title: 0007-1048
  • Blood, Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payan, S.; Tornador, C.; Hernández, G.; Bianchi, P.; Sánchez Fernández, Mayka; Ramirez, J.C.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2021
    Vol.: 138 No.: 1
    DOI: 10.1182/blood-2021-152332 ISSN or title: 0006-4971
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernandez, G.; Ferrer, X.; Venturi, V.; Musri, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: 10.3390/genes12121980 ISSN or title: 2073-4425
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica; Musri, Melina; Pilquil, Martin Floor; Torres, Pau Marc Muñoz; Rodríguez, Ines Hernandez; Mínguez, Maria Àngels Ruiz; Kelleher, Nicholas J.; Pelucchi, Sara; Piperno, Alberto; Alberca, Esther Plensa; Ricós, Georgina Gener; Giró, Eloi Cañamero; Pérez-Montero, Santiago; Tornador, Cristian; Villà-Freixa, Jordi; Sánchez, Mayka Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: 10.3390/genes12121980
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernández Viedma, Gonzalo; Ferrer, X.; Hernández-Rodriguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez-Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: 10.3390/ijms22115451 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome
    Name: Nos, Ferran Celma; Hernández, Gonzalo; Ferrer‐cortès, Xènia; Hernandez‐rodriguez, Ines; Navarro‐almenzar, Begoña; Fuster, José Luis; Cortés, Mar Bermúdez; Pérez‐montero, Santiago; Tornador, Cristian; Sanchez, Mayka Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: 10.3390/ijms22115451 ISSN or title: 1661-6596
  • Blood, Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payán, S.; Tornador, C.; Hernandez, G.; Sánchez Fernández, Mayka; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2020
    Vol.: 136 No.: 1
    DOI: 10.1182/blood-2020-139207 ISSN or title: 0006-4971
  • International Journal of Molecular Sciences, Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis
    Name: Cuenca, Marc Vila; Marchi, Giacomo; Barqué, Anna; Esteban-Jurado, Clara; Marchetto, Alessandro; Giorgetti, Alejandro; Chelban, Viorica; Houlden, Henry; Wood, Nicholas W.; Piubelli, Chiara; Borges, Marina Dorigatti; de Albuquerque, Dulcinéia Martins; Fertrin, Kleber Yotsumoto; Jové-Buxeda, Ester; Sanchez-Delgado, Jordi; Baena-Díez, Neus; Burnyte, Birute; Utkus, Algirdas; Busti, Fabiana; Kaubrys, Gintaras; Suku, Eda; Kowalczyk, Kamil; Karaszewski, Bartosz; Porter, John B.; Pollard, Sally; Eleftheriou, Perla; Bignell, Patricia; Girelli, Domenico; Sanchez, Mayka Role: Autor Publishing date: 2020
    Vol.: 21 No.: 7
    DOI: 10.3390/ijms21072374 ISSN or title: 1661-6596
  • Frontiers in Physiology, CoDysAn
    Name: Tornador, Cristian; Sánchez-Prados, Edgar; Cadenas, Beatriz; Russo, Roberta; Venturi, Veronica; Andolfo, Immacolata; Hernández-Rodriguez, Ines; Iolascon, Achille; Sánchez, Mayka Role: Autor Publishing date: 2019
    Vol.: 10
    DOI: 10.3389/fphys.2019.01063
  • Pharmaceuticals, L-ferritin
    Name: Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar; Hernandez-Rodriguez, Inés; Fuster, José Luis; Llinares, María Esther; Galera, Ana María; Romero, Julia Lee; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez, Mayka Role: Autor Publishing date: 2019
    Vol.: 12 No.: 1
    DOI: 10.3390/ph12010017
  • Haematologica-the Hematology journal, The phenotypic spectrum of germline YARS2 variants
    Name: Riley, Lisa G.; Heeney, Matthew M.; Rudinger-Thirion, Joëlle; Frugier, Magali; Campagna, Dean R.; Zhou, Ronghao; Hale, Gregory A.; Hilliard, Lee M.; Kaplan, Joel A.; Kwiatkowski, Janet L.; Sieff, Colin A.; Steensma, David P.; Rennings, Alexander J.; Simons, Annet; Schaap, Nicolaas; Roodenburg, Richard J.; Kleefstra, Tjitske; Arenillas, Leonor; Fita-Torró, Josep; Ahmed, Rasha; Abboud, Miguel; Bechara, Elie; Farah, Roula; Tamminga, Rienk Y.J.; Bottomley, Sylvia S.; Sanchez, Mayka; Huls, Gerwin; Swinkels, Dorine W.; Christodoulou, John; Fleming, Mark D. Role: Autor Publishing date: 2018
    Start page: 2008 End page: 2015 Vol.: 103 No.: 12
    DOI: 10.3324/haematol.2017.182659 ISSN or title: 0390-6078
  • Genética Médica y Genómica, Cuando el hierro es tóxico
    Name: Barqué, A.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2017
    Start page: 49 End page: 60 Vol.: 1 No.: 1
    ISSN or title: 2605-0463
  • Scientific Reports, Functional characterization of a novel non-coding mutation "ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
    Name: Van De Sompele, Stijn; Pécheux, Lucie; Couso, Jorge; Meunier, Audrey; Sanchez, Mayka; De Baere, Elfride Role: Autor Publishing date: 2017
    Vol.: 7 No.: 1
    DOI: 10.1038/s41598-017-18326-6
  • Blood, The actin-binding protein profilin 2 is a novel regulator of iron homeostasis
    Name: Luscieti, Sara; Galy, Bruno; Gutierrez, Lucia; Reinke, Michael; Couso, Jorge; Shvartsman, Maya; Di Pascale, Antonio; Witke, Walter; Hentze, Matthias W.; Pilo Boyl, Pietro; Sanchez, Mayka Role: Autor Publishing date: 2017
    Start page: 1934 End page: 1945 Vol.: 130 No.: 17
    DOI: 10.1182/blood-2016-11-754382 ISSN or title: 0006-4971
  • Haematologica-the Hematology journal, The european hematology association roadmap for european hematology research
    Name: Engert, Andreas; Balduini, Carlo; Brand, Anneke; Coiffier, Bertrand; Cordonnier, Catherine; Döhner, Hartmut; De Wit, Thom Duyvené; Eichinger, Sabine; Fibbe, Willem; Green, Tony; De Haas, Fleur; Iolascon, Achille; Jaffredo, Thierry; Rodeghiero, Francesco; Sall Es, Gilles; Schuringa, Jan Jacob; André, Marc; Andre-Schmutz, Isabelle; Bacigalupo, Andrea; Bochud, Pierre Yves; Den Boer, Monique; Bonini, Chiara; Camaschella, Clara; Cant, Andrew; Cappellini, Maria Domenica; Cazzola, Mario; Celso, Cristina Lo; Dimopoulos, Meletios; Douay, Luc; Dzierzak, Elaine; Einsele, Hermann; Ferreri, Andrés; De Franceschi, Lucia; Gaulard, Philippe; Gottgens, Berthold; Greinacher, Andreas; Gresele, Paolo; Gribben, John; De Haan, Gerald; Hansen, John Bjarne; Hochhaus, Andreas; Kadir, Rezan; Kaveri, Srini; Kouskoff, Valerie; Kühne, Thomas; Kyrle, Paul; Ljungman, Per; Maschmeyer, Georg; Méndez-Ferrer, Simón; Sanchez, Mayka Role: Autor Publishing date: 2016
    Start page: 115 End page: 208 Vol.: 101 No.: 2
    DOI: 10.3324/haematol.2015.136739 ISSN or title: 0390-6078
  • PLoS ONE, Molecular evolution of multiple-level control of heme biosynthesis pathway in animal Kingdom
    Name: Tzou, Wen Shyong; Chu, Ying; Lin, Tzung Yi; Hu, Chin Hwa; Pai, Tun Wen; Liu, Hsin Fu; Lin, Han Jia; Cases, Ildeofonso; Rojas, Ana; Sanchez, Mayka; You, Zong Ye; Hsu, Ming Wei Role: Autor Publishing date: 2014
    Vol.: 9 No.: 1
    DOI: 10.1371/journal.pone.0086718
  • Medicina clínica, Systematic approach to the diagnosis of hyperferritinemia
    Name: Altés, A.; Pérez-Lucena, M.J.; Bruguera, M.; Sánchez Fernández, Mayka; Iberico Ferropatologia, Grp Role: Autor Publishing date: 2014
    Start page: 412 End page: 417 Vol.: 142 No.: 9
    DOI: 10.1016/j.medcli.2013.06.010 ISSN or title: 0025-7753
  • Patient education and counseling, The importance of the general practitioner as an information source for patients with hereditary haemochromatosis
    Name: Teixeira, Emerência; Borlido-Santos, Júlio; Brissot, Pierre; Butzeck, Barbara; Courtois, Françoise; Evans, Robert W.; Fernau, Janet; Nunes, João Arriscado; Mullett, Margaret; Paneque, Milena; Pineau, Brigitte; Porto, Graça; Sorrill, Robert; Sanchez, Mayka; Swinkels, Dorine W.; Toska, Ketil; Varkonyi, Judit Role: Autor Publishing date: 2014
    Start page: 86 End page: 92 Vol.: 96 No.: 1
    DOI: 10.1016/j.pec.2014.04.017 ISSN or title: 0738-3991
  • Human mutation, Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency Anemia patients and genotype-phenotype studies
    Name: de Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon-Rodriguez, Maria; Yilmaz-Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Grandchamp, Bernard; Sanchez, Mayka Role: Autor Publishing date: 2014
    Start page: 1321 End page: 1329 Vol.: 35 No.: 11
    DOI: 10.1002/humu.22632 ISSN or title: 1059-7794
  • Orphanet Journal of Rare Diseases, Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
    Name: Luscieti, Sara; Tolle, Gabriele; Aranda, Jessica; Campos, Carmen Benet; Risse, Frank; Morán, Érica; Muckenthaler, Martina U.; Sánchez, Mayka Role: Autor Publishing date: 2013
    Vol.: 8 No.: 1
    DOI: 10.1186/1750-1172-8-30
  • Journal of molecular medicine (JMM), Siderophore-mediated iron trafficking in humans is regulated by iron
    Name: Liu, Zhuoming; Lanford, Robert; Mueller, Sebastian; Gerhard, Glenn S.; Luscieti, Sara; Sanchez, Mayka; Devireddy, L. Role: Autor Publishing date: 2012
    Start page: 1209 End page: 1221 Vol.: 90 No.: 10
    DOI: 10.1007/s00109-012-0899-7 ISSN or title: 0946-2716
  • Blood, Iron regulatory protein-1 and -2
    Name: Sanchez, Mayka; Schwanhaeusser, Bjoern; Blake, Jonathon; Bähr-Ivacevic, Tomi; Benes, Vladimir; Selbach, Matthias; Muckenthaler, Martina U.; Hentze, Matthias W. Role: Autor Publishing date: 2011
    Start page: e168 End page: e179 Vol.: 118 No.: 22
    DOI: 10.1182/blood-2011-04-343541 ISSN or title: 0006-4971
  • Immunobiology, Mycobacteria-induced anaemia revisited
    Name: Rodrigues, Pedro N.; Gomes, Sandro S.; Neves, João V.; Gomes-Pereira, Sandra; Correia-Neves, Margarida; Nunes-Alves, Cláudio; Stolte, Jens; Sanchez, Mayka; Appelberg, Rui; Muckenthaler, Martina U.; Gomes, M. Salomé Role: Autor Publishing date: 2011
    Start page: 1127 End page: 1134 Vol.: 216 No.: 10
    DOI: 10.1016/j.imbio.2011.04.004 ISSN or title: 0171-2985
  • Haematologica-the Hematology journal, Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
    Name: Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; Kerr, Briedgeen; Moran, Erica; Soler, Jose L.Fuster; Maloum, Karim; Matthes, Thomas; Oudot, Caroline; Lascaux, Axelle; Pondarré, Corinne; Navarro, Julian Sevilla; Vidyatilake, Sudharma; Beaumont, Carole; Grandchamp, Bernard; May, Alison Role: Autor Publishing date: 2011
    Start page: 808 End page: 813 Vol.: 96 No.: 6
    DOI: 10.3324/haematol.2010.039164 ISSN or title: 0390-6078
  • Nucleic acids research, SIREs
    Name: Campillos, Monica; Cases, Ildefonso; Hentze, Matthias W.; Sanchez, Mayka Role: Autor Publishing date: 2010
    Start page: W360 End page: W367 Vol.: 38 No.: SUPPL. 2
    DOI: 10.1093/nar/gkq371 ISSN or title: 0305-1048
  • BMC Bioinformatics, The IronChip evaluation package
    Name: Vainshtein, Yevhen; Sanchez, Mayka; Brazma, Alvis; Hentze, Matthias W.; Dandekar, Thomas; Muckenthaler, Martina U. Role: Autor Publishing date: 2010
    Vol.: 11
    DOI: 10.1186/1471-2105-11-112
  • Human molecular genetics, Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
    Name: Ramsay, Andrew J.; Quesada, Victor; Sanchez, Mayka; Garabaya, Cecilia; Sardá, María P.; Baiget, Montserrat; Remacha, Angel; Velasco, Gloria; López-Otín, Carlos Role: Autor Publishing date: 2009
    Start page: 3673 End page: 3683 Vol.: 18 No.: 19
    DOI: 10.1093/hmg/ddp315 ISSN or title: 0964-6906
  • Nature protocols (Print), Identification of target mRNAs of regulatory RNA-binding proteins using mRNP immunopurification and microarrays
    Name: Sanchez, Mayka; Galy, Bruno; Hentze, Matthias W.; Muckenthaler, Martina U. Role: Autor Publishing date: 2007
    Start page: 2033 End page: 2042 Vol.: 2 No.: 8
    DOI: 10.1038/nprot.2007.293 ISSN or title: 1754-2189
  • Nature structural and molecular biology, Iron-regulatory proteins limit hypoxia-inducible factor-2α expression in iron deficiency
    Name: Sanchez, Mayka; Galy, Bruno; Muckenthaler, Martina U.; Hentze, Matthias W. Role: Autor Publishing date: 2007
    Start page: 420 End page: 426 Vol.: 14 No.: 5
    DOI: 10.1038/nsmb1222 ISSN or title: 1545-9993
  • Journal of biological chemistry, Iron regulation and the cell cycle
    Name: Sanchez, Mayka; Galy, Bruno; Dandekar, Thomas; Bengert, Peter; Vainshtein, Yevhen; Stolte, Jens; Muckenthaler, Martina U.; Hentze, Matthias W. Role: Autor Publishing date: 2006
    Start page: 22865 End page: 22874 Vol.: 281 No.: 32
    DOI: 10.1074/jbc.M603876200 ISSN or title: 0021-9258
  • Endocrine, The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Name: Oliva, Rafael; Novials, Anna; Sánchez, Mayka; Villa, Marga; Ingelmo, Mercedes; Recasens, Mónica; Ascaso, Carlos; Bruguera, Miquel; Gomis, Ramón Role: Autor Publishing date: 2004
    Start page: 111 End page: 114 Vol.: 24 No.: 2
    DOI: 10.1385/ENDO:24:2:111 ISSN or title: 1355-008X
  • Nature genetics, An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
    Name: Roy, Cindy N.; Custodio, Ángel O.; De Graaf, Jos; Schneider, Susanne; Akpan, Imo; Montross, Lynne K.; Sanchez, Mayka; Gaudino, Alessandro; Hentze, Matthias W.; Andrews, Nancy C.; Muckenthaler, Martina U. Role: Autor Publishing date: 2004
    Start page: 481 End page: 485 Vol.: 36 No.: 5
    DOI: 10.1038/ng1350 ISSN or title: 1061-4036
  • Journal of hepatology, Population screening for hemochromatosis
    Name: Sánchez, Mayka; Villa, Margarita; Ingelmo, Mercedes; Sanz, Cristina; Bruguera, Miquel; Ascaso, Carlos; Oliva, Rafael Role: Autor Publishing date: 2003
    Start page: 745 End page: 750 Vol.: 38 No.: 6
    DOI: 10.1016/S0168-8278(03)00123-5 ISSN or title: 0168-8278
  • Blood cells molecules and diseases, Complete characterization of the 3′ region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    Name: Sánchez, Mayka; Bruguera, Miquel; Rodés, Joan; Oliva, Rafael Role: Autor Publishing date: 2001
    Start page: 35 End page: 43 Vol.: 27 No.: 1
    DOI: 10.1006/bcmd.2000.0346 ISSN or title: 1079-9796
  • Genetic testing, Hereditary hemochromatosis in Spain
    Name: Sanchez, M.; Bruguera, M.; Quintero, E.; Barrio, Y.; Mazzara, R.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2000
    Start page: 171 End page: 176 Vol.: 4 No.: 2
    DOI: 10.1089/10906570050114885 ISSN or title: 1090-6576
  • European Journal of Gastroenterology and Hepatology, Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez, Mayka; Bruguera, Miquel; Bosch, Jaume; Rodés, Joan; Ballesta, Francisea; Oliva, Rafael Role: Autor Publishing date: 1999
    Vol.: 11 No.: 1
    DOI: 10.1097/00042737-199901000-00013 ISSN or title: 0954-691X
  • Journal of hepatology, revalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez Fernández, Mayka; Bruguera, M.; Bosch, J.; Rodes, J.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 725 End page: 728 Vol.: 29 No.: 5
    ISSN or title: 0168-8278
  • Biochemical and Biophysical Research Communications, Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals
    Name: Margarit, Ester; Guillén, Alicia; Rebordosa, Cristina; Vidal-Taboada, José; Sánchez, Mayka; Ballesta, Francisca; Oliva, Rafael Role: Autor Publishing date: 1998
    Start page: 370 End page: 377 Vol.: 245 No.: 2
    DOI: 10.1006/bbrc.1998.8441 ISSN or title: 0006-291X
  • Biochemical and biophysical research communications, High resolution mapping and identification of transcribed sequences in the Down Syndrome region-2
    Name: Vidal-Taboada, J.; Bergoñon, S.; Sánchez Fernández, Mayka; López-Acedo, C.; Groet, J.; Nižetić, D.; Egeo, A.; Scartezzini, P.; Katsanis, N.; Fisher, E.; Delabar, J.M.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 572 End page: 578 Vol.: 243 No.: 2
    DOI: 10.1006/bbrc.1998.8141
  • Gene, Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter
    Name: Sánchez, Mayka; Queralt, Rosa; Bruguera, Miquel; Rodés, Joan; Oliva, Rafael Role: Autor Publishing date: 1998
    Start page: 77 End page: 87 Vol.: 225 No.: 1-2
    DOI: 10.1016/S0378-1119(98)00519-8 ISSN or title: 0378-1119
  • Journal of hepatology, Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez, Mayka; Bruguera, Miquel; Bosch, Jaume; Rodés, Joan; Ballesta, Francisca; Oliva, Rafael Role: Autor Publishing date: 1998
    Start page: 725 End page: 728 Vol.: 29 No.: 5
    DOI: 10.1016/S0168-8278(98)80252-3 ISSN or title: 0168-8278
  • Capítulo 19 Hemocromatosis. Eritropatología. 2nd Edition.
    Name: Sánchez Fernández, Mayka Role: Autor Publishing date: 2024
    Start page: 501 End page: 516
    ISBN: 978-84-125780-7-2
  • Capítulo Anemias Sideroblásticas Congénitas.. Guía de Recomendaciones para el Diagnóstico Genético y Seguimiento de Neoplasias Hematológicas
    Name: Anguita, E.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2017
  • Capítulo Hemocromatosis. Guía de recomendaciones para el diagnóstico genético y seguimiento de neoplasias
    Name: Sánchez Fernández, Mayka; Blas-López, C. Role: Autor Publishing date: 2017
  • Capítulo 30 Hemocromatosis Hereditaria. Eritropatología
    Name: Sánchez Fernández, Mayka; Altés, A. Role: Autor Publishing date: 2017
    Start page: 569 End page: 582
    ISBN: 978-84-945945-4-0
  • Capítulo 8 Anemias sideroblásticas congénitas.. Eritropatología
    Name: Sánchez Fernández, Mayka Role: Autor Publishing date: 2017
    ISBN: 978-84-945945-4-0
  • Capítulo 33. Anemias sideroblásticas congénitas. Manual Práctico de Genética Hematológica
    Name: Anguita, E.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2016
    ISBN: 9788460857570
  • Capítulo 36. Hemocromatosis. Manual Práctico de Genética Hematológica
    Name: Sánchez Fernández, Mayka; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C. Role: Autor Publishing date: 2016
    ISBN: 9788460857570
  • Tema 3. Trastornos del hierro en el organismo y métodos de estudio. Dentro del Módulo 4. Anemia y Poliglobulia.. Experto en bases del diagnóstico en Hematología
    Name: Sánchez Fernández, Mayka Role: Autor Publishing date: 2016
    ISBN: 9788491100317
  • Capítulo 15: Métodos para el diagnóstico de la ferropenia y el exceso de hierro. Manual de técnicas de laboratorio en hematología
    Name: Sánchez Fernández, Mayka; Vives-Corrons, J.L. Role: Autor Publishing date: 2014
    Start page: 390 End page: 433
    ISBN: 987-84-458-2147-3
  • Hereditary non-sideroblastic Anemia and Inherited Iron disorders. ENERCA reccommendations for Centres of Expertise in rare anaemias: A White Book
    Name: Sánchez Fernández, Mayka Role: Autor Publishing date: 2014
    ISBN: 978-84-939018-8-1
  • Capitulo 31. Práctica 6: bases de dades i d'anàlisi de seqüències a internet. Genética Médica
    Name: Oliva, R.; Vidal-Taboada, J.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2013
    ISBN: 978-84-475-3688-7
  • Cellular Iron Metabolism- the IRP/IRE regulatory network. Iron Metabolism
    Name: Joshi, R.; Morán, E.; Sánchez Fernández, Mayka Role: Autor Publishing date: 2012
    Start page: 25 End page: 58
    ISBN: 978-953-51-0650-0
  • Capitol 29: Base de dades i d'anàlisis de seqüències a internet. Genètica Mèdica
    Name: Vidal-Taboada, J.; Sánchez Fernández, Mayka; Oliva, R. Role: Autor Publishing date: 2004
    ISBN: 84-475-2809-X
Course 2025-2026 - Period: 01/09/2025 - 31/08/2026
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Final Degree Project
    • - Clinical Genetics
    • - Genetics
    • - External Laboratory Practices
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Practicum I
    • - Final Master's Degree Project
    • - Practicum II
    • - Research On Rare Diseases
Course 2024-2025 - Period: 01/09/2024 - 31/08/2025
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Clinical Genetics
    • - Genetics
    • - Final Degree Project
    • - Work Placement
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2023-2024 - Period: 01/09/2023 - 31/08/2024
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2022-2023 - Period: 01/09/2022 - 31/08/2023
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2021-2022 - Period: 01/09/2021 - 31/08/2022
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2020-2021 - Period: 01/09/2020 - 31/08/2021
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2019-2020 - Period: 01/09/2019 - 31/08/2020
  • Bachelor's Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
Course 2018-2019 - Period: 01/09/2018 - 31/08/2019
  • Bachelor's Degree
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Others
    UIC - Specific Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Integrated Biomedicine I